The UMD-FBN1 mutations database
Record ID: 2699

Mutation description


Variation name (cDNA level)Variation name (protein level)Variation statusVariation class
c.235C>Tp.Gln79XHeterozygousMutation

wt codonwt aamutant codonmutant aamutational eventmutation type
CAGGlnTAGStopC->TTs

StructureKey Residue (HCD)Pyrimidin doubletCpG
4-cys motif LTBP-like 4-cysteine motifYes, coding strandNo

Mutation impact


At the mRNA levelOn restriction map
NANew restriction site(s): none
Lost restriction site(s): none

Patient and sample data


Sample IDPatient statusGenderTransmissionAge of onsetAge of deathGeographic origin
FRA01BOU F0964 I1000ProbandMaleNAFRANCE

Phenotypic groupDisease
NAIncomplete MFS

Clinical data


Symptom

Reference


Reference IDPubMed IDReference
207-
Boileau C. (personnal communication 2013)